Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

MALDI-TOF Mass Spectrometry01:19

MALDI-TOF Mass Spectrometry

Mass spectrometry is a powerful characterization technique that can identify and separate a wide variety of compounds ranging from chemical to biological entities, based on their mass-to-charge ratio (m/z). The instruments that allow this detection, known as mass spectrometers, have three components: an ion source, a mass analyzer, and a detector. These spectrometers differ based on the nature of their ion source and analyzers.Matrix-assisted laser desorption ionization (MALDI) is a commonly...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Peptide Identification Using Tandem Mass Spectrometry01:33

Peptide Identification Using Tandem Mass Spectrometry

Tandem mass spectrometry, also known as MS/MS or MS2, is an analytical technique that employs two mass analyzers. Essentially it is a series of mass spectrometers that helps isolate a particular biomolecule and then helps study its chemical properties.
This technique helps gather information regarding the protein from which the peptide was obtained and to study the peptides’ amino acid sequence. Identifying peptides from a complex mixture is an important component of the growing field of...
Rapid Identification of Pathogens01:25

Rapid Identification of Pathogens

MALDI-TOF MS has transformed clinical microbiology by offering a rapid and reliable method for pathogen identification. The traditional approach to microbial identification typically involves time-consuming culture techniques and biochemical tests, which can delay the initiation of appropriate antimicrobial therapy. MALDI-TOF MS avoids these delays by using characteristic ribosomal protein mass patterns of microbial cells, enabling accurate species-level identification within minutes.Principle...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Development and implementation of a comprehensive ultrasound curriculum for medical students: The Bonn internship point-of-care-ultrasound curriculum (BI-POCUS).

Frontiers in medicine·2023
Same author

Stem cells in perinatal medicine.

Journal of perinatal medicine·2023
Same author

[Folate, Choline, and Vitamin B12 Supplementation for Pre-Conceptional and Pregnant Women].

Therapeutische Umschau. Revue therapeutique·2022
Same author

Astodrimer sodium and bacterial vaginosis: a mini review.

Archives of gynecology and obstetrics·2022
Same author

Some historical and general considerations on NIPT - great progress achieved, but we have to proceed with caution.

Journal of perinatal medicine·2021
Same author

How genomics is changing the practice of prenatal testing.

Journal of perinatal medicine·2021
Same journal

Non-Factor Therapies in Haemophilia: The Era of Factor VIII Mimetics and Targeted Rebalancing Agents.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie·2026
Same journal

Haemophilia: Novel Therapies and Diagnostic Challenges.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie·2026
Same journal

Long-Read Sequencing in Blood Group Genetics.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie·2026
Same journal

Occurrence of Cold Agglutinin Disease among Patients with Autoimmune Hemolytic Anemia: A Hungarian Single-Center Experience.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie·2026
Same journal

The Landscape of Advanced Therapy Medicinal Products in Slovenian Transfusion Medicine: A Review of Past and Future Outlook.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie·2026
Same journal

ABO Incongruency Increases Risk for Necrotizing Enterocolitis in Preterm Neonates.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie·2026
See all related articles

Related Experiment Video

Updated: Jun 7, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

MALDI-TOF MS in Prenatal Genomics.

Xiao Yan Zhong1, Wolfgang Holzgreve

  • 1Laboratory for Prenatal Medicine and Gynaecological Oncology, University Women's Hospital /Department Research, University of Basel, Switzerland.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
|November 5, 2010
PubMed
Summary
This summary is machine-generated.

Non-invasive prenatal diagnosis (NIPD) uses fetal DNA in maternal blood for genetic testing. Matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) enhances NIPD accuracy for various fetal conditions.

More Related Videos

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Related Experiment Videos

Last Updated: Jun 7, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Genomics
  • Molecular Diagnostics
  • Obstetrics and Gynecology

Background:

  • Prenatal diagnosis offers reassurance or informs decisions regarding pregnancies with potential health issues.
  • Invasive prenatal diagnosis (IPD) is accurate but carries miscarriage risks.
  • Non-invasive prenatal diagnosis (NIPD) utilizes circulating fetal DNA but faces challenges due to low fetal DNA concentration.

Purpose of the Study:

  • To review the application of matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) in prenatal genomics.
  • To highlight advancements in NIPD technologies for improved fetal genetic analysis.

Main Methods:

  • Exploration of various NIPD protocols and assays, including homogenous MassEXTEND (hME) and single allele base extension reaction (SABER).
  • Detailed analysis of precise copy number variation and quantitative methylation/expression analysis.
  • Focus on high-throughput sensitive MALDI-TOF MS for NIPD applications.

Main Results:

  • MALDI-TOF MS enables NIPD for single gene disorders, fetal blood group genotyping, and fetal aneuploidies.
  • Development of fetal gender-independent biomarkers in maternal circulation for managing pathological pregnancies.
  • Demonstration of MALDI-TOF MS's capability in analyzing low-concentration fetal DNA in maternal blood.

Conclusions:

  • MALDI-TOF MS is a powerful tool for advancing non-invasive prenatal genomics.
  • NIPD using MALDI-TOF MS offers a safer alternative to IPD for various fetal genetic assessments.
  • Continued development of MALDI-TOF MS-based assays promises broader applications in prenatal care.